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CCDG NP Epilepsy: Epi25 Consortium

phs001489.v2.p2dbGapdbGap FHIR

Description

Epilepsy genetics research is at an exciting stage where it is now feasible, with the power of a large cohort, to understand the more complex genetic components of epilepsy. The driving principle behind the Epi25 Consortium is collaboration and synergy - it is only possible to achieve this type of research by working together. The Epi25 Consortium was formed by the unification of various consortia, including Epi4K, EPIGEN, EuroEPINOMICS, the Epilepsy Phenome/Genome Project, EpiPGX, SANAD, and EpiCURE, and individual epilepsy investigators. The consortium's sample collection is the best resource in the world for this disease, both in terms of numbers of patients and quality of phenotypic information.

As part of the NHGRI Centers for Common Disease Genomics, we are aggregating a global sample collection from the various repositories for whole genome genotyping and whole exome sequencing (WES) at the Broad Institute (Cambridge, MA), initiating the largest and most ethnically diverse genetic study of epilepsy to date. The primary epilepsy phenotypes for Epi25 are based on strict standards agreed upon by the epilepsy community. The epilepsy cases contributed by Epi25 sites can be defined as genetic generalized epilepsy (GGE), non-acquired focal epilepsy (NAFE), epileptic encephalopathies (EE), and lesional focal epilepsies. The genomic data will be analyzed iteratively to identify genes and variants that explain these types of epilepsy. Summary clinical data compiled in the Epi25 clinical database will allow retrospective phenotypic analyses of groups of subjects with common genomic variant(s).

Summary

PlatformsAnVIL
Consent CodesDS-EPSBAID-MDS-RD, DS-EPSBA-MDS-RD, DS-EPSBACID-MDS-RD, DS-EPCOM-MDS-RD, DS-EPSBACID-NPU-MDS-RD, DS-EPI-MULTI-MDS, DS-EPASM-MDS, HMB-NPU-MDS, DS-EPASM-MDS-RD, DS-EP, HMB-MDS, GRU-IRB, GRU, DS-CARNEU-MDS, DS-SEIZD, DS-EP-MDS, DS-EP-NPU, HMB, DS-EPI-ADULT-NPU-MDS, GRU-NPU, DS-EAED-MDS, DS-NEUROLOGY-MDS, DS-EARET-MDS, DS-NPD-IRB-NPU, DS-NEUROLOGY-ADULTS-NPU, HMB-IRB-MDS
Focus / DiseasesEpilepsy
Study DesignCase-Control
Data TypesSNP/CNV Genotypes (NGS), WXS
Subjects12,890